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Article

Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.

The Journal of biological chemistry - 8 Jan 2010

Hubmacher Dirk, Cirulis Judith T, Miao Ming, Keeley Fred W, Reinhardt Dieter P

Abstract excerpt

Homocystinuria caused by cystathionine-beta-synthase deficiency represents a severe form of homocysteinemias, which generally result in various degrees of elevated plasma homocysteine levels. Marfan syndrome is caused by mutations in fibrillin-1, which is one of the major constituents of connective tissue microfibrils. Despite the fundamentally different origins, both diseases share common clinical symptoms in...

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Identifiers

PMID: 19889633
DOI: 10.1074/jbc.M109.021246
PMCID: PMC2801247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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